{
  "resourceType" : "Observation",
  "id" : "MII-EXA-MTB-RNA-Fusion-1",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion|2026.0.1"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation MII-EXA-MTB-RNA-Fusion-1</b></p><a name=\"MII-EXA-MTB-RNA-Fusion-1\"> </a><a name=\"hcMII-EXA-MTB-RNA-Fusion-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-mtb-rna-fusion.html\">MII PR MTB RNA Fusionversion: null2026.0.1)</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.5.4&amp;canonical=http://fhir.org/packages/de.basisprofil.r4/Patient/example\">Patient/example</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-gene}\">Five Prime Gene</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1316}\">EML4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-transcript-id}\">Five Prime Transcript ID</span></p><p><b>value</b>: <span title=\"Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_019063.4}\">NM_019063.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-exon-id}\">Five Prime Exon ID</span></p><p><b>value</b>: <span title=\"Codes:\">Exon 13</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-position}\">Five Prime Position</span></p><p><b>value</b>: 42396490-42396490</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-strand}\">Five Prime Strand</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0002262}\">Watson_strand</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-gene}\">Three Prime Gene</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:427}\">ALK</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-transcript-id}\">Three Prime Transcript ID</span></p><p><b>value</b>: <span title=\"Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_004304.5}\">NM_004304.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-exon-id}\">Three Prime Exon ID</span></p><p><b>value</b>: <span title=\"Codes:\">Exon 20</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-position}\">Three Prime Position</span></p><p><b>value</b>: 29446394-29446394</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-strand}\">Three Prime Strand</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0002262}\">Watson_strand</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{https://cancer.sanger.ac.uk/cosmic COSF1171}\">EML4-ALK fusion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 250 reads<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory",
      "display" : "Laboratory"
    }]
  },
  {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "69548-6",
      "display" : "Genetic variant assessment"
    }]
  },
  "subject" : {
    "reference" : "Patient/example"
  },
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA9633-4",
      "display" : "Present"
    }]
  },
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "five-prime-gene"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:1316",
        "display" : "EML4"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "five-prime-transcript-id"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://www.ncbi.nlm.nih.gov/refseq/",
        "code" : "NM_019063.4"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "five-prime-exon-id"
      }]
    },
    "valueCodeableConcept" : {
      "text" : "Exon 13"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "five-prime-position"
      }]
    },
    "valueRange" : {
      "low" : {
        "value" : 42396490
      },
      "high" : {
        "value" : 42396490
      }
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "five-prime-strand"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.sequenceontology.org",
        "code" : "SO:0002262",
        "display" : "Watson_strand"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "three-prime-gene"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:427",
        "display" : "ALK"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "three-prime-transcript-id"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://www.ncbi.nlm.nih.gov/refseq/",
        "code" : "NM_004304.5"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "three-prime-exon-id"
      }]
    },
    "valueCodeableConcept" : {
      "text" : "Exon 20"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "three-prime-position"
      }]
    },
    "valueRange" : {
      "low" : {
        "value" : 29446394
      },
      "high" : {
        "value" : 29446394
      }
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker",
        "code" : "three-prime-strand"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.sequenceontology.org",
        "code" : "SO:0002262",
        "display" : "Watson_strand"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81252-9"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://cancer.sanger.ac.uk/cosmic",
        "code" : "COSF1171",
        "display" : "EML4-ALK fusion"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "82121-5"
      }]
    },
    "valueQuantity" : {
      "value" : 250,
      "unit" : "reads",
      "system" : "http://unitsofmeasure.org",
      "code" : "1"
    }
  }]
}